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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH2

Variant:p.T144_D145del0

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PRPH2

NM_000322.5:p.T144_D145del0

hg38:chr6:42721897 GGTGTCT>G

Associated Papers

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Xu P et al.

Human Genetics, 2023

36964785 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."